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Cited by 54Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesGrowth Hormone and Insulin-like Growth Factors

LIN28B in constitutional delay of growth and puberty

Tommiska, Johanna, Wehkalampi, Karoliina, Vaaralahti, Kirsi, Laitinen, Eeva-Maria, Raivio, Taneli, Dunkel, Leo·2010·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jc.2009-2344
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Abstract

BACKGROUND: Recently variation in LIN28B, a human ortholog of the gene-regulating processing of micro-RNAs (miRNAs) controlling the timing of major developmental events in the nematode Caenorhabditis elegans, was reported to be associated with timing of puberty in humans. In C. elegans, a gain-of-function allele of lin-28 causes a retarded phenotype. OBJECTIVE: The objective of the study was to evaluate the variation in the LIN28B gene in 145 subjects with constitutional delay of growth and puberty (CDGP). PATIENTS AND METHODS: For this study, 115 males and 30 females with CDGP were included. CDGP was defined by Tanner genital or breast stage II and pubertal growth spurt taking place 2 SD later than average. The four coding exons (exons 1-4) and exon-intron boundaries, as well as the fragment of 3' untranslated region containing miRNA recognition elements A and B, of LIN28B were PCR amplified from genomic DNA obtained from peripheral blood leukocytes of the subjects and bidirectionally sequenced. RESULTS: No variation in the coding region of LIN28B in the 145 subjects with CDGP was found. However, 16 of 145 subjects carried a 2-nucleotide deletion immediately 5' from miRNA recognition element A. These patients did not differ in phenotypic features as compared with noncarriers, and this variant was present in 100 controls with the same frequency. CONCLUSIONS: Our results show that mutations in the coding region or 3' untranslated region miRNA recognition elements A and B of LIN28B do not underlie CDGP. Lack of any variation in the coding region of the gene suggests that LIN28B in developmental timing is so crucial that any changes in the conserved protein would probably be lethal.

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  • Mutations in LIN28B have not been identified in patients with central precocious puberty or constitutional delay of growth and puberty.

    “Mutations in LIN28B have not been identified in patients with central precocious puberty or constitutional delay of growth and puberty.86,87”

    From Pubertal development and regulation (2016) · cites this paper as [86]

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Authors
Tommiska, J., Wehkalampi, K., Vaaralahti, K., Laitinen, E.-M., Raivio, T., & Dunkel, L.
Affiliations
  • University of Helsinki (FI)
  • Helsinki University Hospital (FI)
  • Kuopio University Hospital (FI)
Corresponding author
Raivio, Taneli
ORCID
Venue
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Published
2010-06-01
Volume
95
Issue
6
Pages
3063-3066
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
DOI
10.1210/jc.2009-2344
OpenAlex
W2060731979
Cited by
53
References
22
Citations by year
2024: 1 · 2023: 3 · 2022: 1 · 2021: 4 · 2020: 1 · 2019: 8 · 2018: 2 · 2017: 3 · 2016: 5 · 2015: 5 · 2014: 3 · 2013: 6 · 2012: 5
FWCI
6.45
Type
journal article
Language
en
Open access
closed
Locations
  • The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
  • PubMed (publishedVersion)
  • STM:n Hallinnonalan avoin julkaisuarkisto (Julkari) (submittedVersion)
Funders
  • Helsingin Yliopisto
  • Academy of Finland
Topics
  • Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Growth Hormone and Insulin-like Growth Factors
Keywords
LIN28B, constitutional delay of growth and puberty, puberty timing, microRNA processing, 3' untranslated region, genetic variants, growth retardation, developmental timing
MeSH terms
Adolescent, Alleles, Child, DNA Mutational Analysis, DNA-Binding Proteins, Exons, Female, Growth, Humans, Leukocytes, Male, Mutation, Phenotype, Puberty, Puberty, Delayed, RNA-Binding Proteins, DNA, Complementary, Reverse Transcriptase Polymerase Chain Reaction, MicroRNAs, Genome-Wide Association Study

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